Xp11.22 Duplication

Below is a summary for Xp11.22 microduplication syndrome observed in research publications. This is not meant to take the place of medical advice.

What is Xp11.22 microduplication syndrome?

Xp11.22 microduplication syndrome happens when a person has an extra piece of the X chromosome. The extra piece can affect learning and how the body develops.

There are several genes within the Xp11.22 region of the X chromosome that are involved in intellectual disability. This condition can affect males and females.


Because the Xp11.22 region is important for the proper function of the body’s cells, some people may have:

  • Delayed speech and language development
  • Intellectual disability
  • Husky or nasal voice
  • Obesity
  • Early puberty
  • Seizures
  • Autism
  • Constipation
  • Motor delay

Do people who have Xp11.22 microduplication syndrome look different?

People with Xp11.22 microduplication syndrome may look different. Appearance can vary and can include some but not all of these features:

  • Lower leg or feet defects
  • Bushy eyebrows
  • Thin upper lip
  • Tapering fingers

How many people have Xp11.22 microduplication syndrome?

As of 2022, about 90 people with Xp11.22 microduplication syndrome have been described in medical research.


Support Resources



GeneReviews are a great resource to bring to your child’s clinicians. These publications provide a summary of current research on genetic conditions and information on ongoing care.

There is currently no GeneReviews for Xp11.22 Duplication.


Research Article Summaries

We currently do not have any article summaries for Xp11.22 Duplication, but we add resources to our website as they become available.

The information available about Xp11.22 Duplication is limited, and families and doctors share a critical need for more information. As we learn more from children who have this gene change, we expect our list of resources and information to grow.

Full versions of published research articles can be found on PubMed. PubMed is a National Institutes of Health (NIH) online database that is free. It has a collection of both medical and scientific research articles. A PubMed search for Xp11.22 Duplication articles can be found here.


Research Opportunities

Simons Searchlight

Help the Simons Searchlight team learn more about Xp11.22 Duplication genetic changes by taking part in our research. You can learn more about the project and sign up here.

External Research Opportunity: FaceMatch

FaceMatch is a platform that helps parents and doctors contribute to an international secure image database of both undiagnosed and diagnosed children across the globe. *This study is not affiliated with Simons Searchlight. Learn more about FaceMatch.


Family Stories

We do not currently have any stories from Xp11.22 Duplication families.

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